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Genome-Wide Analysis of DNA Methylation in Gastrointestinal Cancer
Published on: September 18, 2020
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Sex Differences in Ependymoma Methylation by Methylation-Defined Subgroup.
Shelby Mestnik1,2, Natali Sorajja2,3, Zhanni Lu2
1Pediatric Hematology and Oncology, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA.
Journal of Cellular and Molecular Medicine
|December 16, 2024
Summary
This study explored sex differences in pediatric ependymoma methylation profiles. While not statistically significant overall, females showed better survival, with one subgroup, ST-EPN-RELA, demonstrating significantly better outcomes for females.
Area of Science:
- Neuro-oncology
- Genomics
- Epigenetics
Background:
- Ependymoma is the second most common malignant pediatric brain tumor.
- It comprises nine methylation-defined subgroups.
- Potential sex-based differences in methylation profiles and their clinical impact remain unclear.
Purpose of the Study:
- To investigate sex differences in methylation profiles across pediatric ependymoma subgroups.
- To identify potential sex-specific therapeutic targets.
- To analyze survival differences between sexes within molecular subgroups.
Main Methods:
- Utilized methylation data from the Gene Expression Omnibus (GEO).
- Identified differentially methylated probes (DMPs) between sexes within each subgroup.
- Mapped DMPs to genes, identified Reactome pathways, and estimated survival by sex.
Main Results:
- Analyzed 492 cases across eight ependymoma subgroups.
- Females exhibited better, though not always statistically significant, 5-year overall survival (OS) and progression-free survival (PFS).
- The ST-EPN-RELA subgroup showed significantly better OS in females. RFTN1 was consistently differentially methylated by sex. Specific pathways were identified in PF-EPN-B, PF-SE, ST-EPN-RELA, and ST-EPN-YAP1 subgroups.
Conclusions:
- Sex-based methylation differences exist in pediatric ependymoma subgroups.
- Identified biological pathways may represent potential therapeutic targets.
- Further research into sex-specific treatments for ependymoma is warranted.

